Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Nana Weber-LassalleJulika BordeKonstantin Weber-LassalleJudit HorváthDieter NiederacherNorbert ArnoldSilke KaulfußCorinna ErnstVictoria G PaulEllen HonischKristina KlaschikAlexander E VolkChristian KubischSteffen RappNadine LicheyJanine AltmüllerLouisa LepkesEsther Pohl-RescignoHolger ThielePeter NürnbergMirjam LarsenLisa RichtersKerstin RhiemBarbara WappenschmidtChristoph EngelAlfons MeindlRita K SchmutzlerEric HahnenJan HaukePublished in: Breast cancer research : BCR (2019)
Due to the significant association of germline LoF variants in BARD1 with early-onset BC, we suggest that intensified BC surveillance programs should be offered to women carrying pathogenic BARD1 gene variants.